S Mercho | PubMed Health

PubMed2005

Preictal headache in partial epilepsy.

The authors studied clinical characteristics in 11 patients with intractable focal epilepsy and preictal headache (PIHA) using a standardized interview. Headache was frontotemporal, ipsilateral to the focus, in nine patients with temporal lobe epilepsy (TLE) and contralateral in one with TLE and in one with frontal seizures. Migrainous features were found in four. After surgery, all seven seizure-free patients and two with rare seizures were free of PIHA. It may be a useful lateralizing sign in patients with TLE.

Adolescent↗

PubMed2001

Repeated neural tube defects and valproate monotherapy suggest a pharmacogenetic abnormality.

Valproate (VPA) is an effective, widely used antiepileptic drug. Unfortunately its use in pregnant women is associated with neural tube defects in the offspring. Although the etiology of neural tube defects is multifactorial, there is evidence that underlying genetic susceptibility plays a part. We describe two women taking moderate doses of VPA who repeatedly bore children with neural tube defects, despite folate supplementation. This suggests a pharmacogenetic susceptibility to the teratogenic effects of VPA.

Adult↗

PubMed1999

Mapping of a gene determining familial partial epilepsy with variable foci to chromosome 22q11-q12.

We identified two large French-Canadian families segregating a familial partial epilepsy syndrome with variable foci (FPEVF) characterized by mostly nocturnal seizures arising from frontal, temporal, and occasionally occipital epileptic foci. There is no evidence for structural brain damage or permanent neurological dysfunction. The syndrome is inherited as an autosomal dominant trait with incomplete penetrance. We mapped the disease locus to a 3. 8-cM interval on chromosome 22q11-q12, between markers D22S1144 and D22S685. Using the most conservative diagnostic scheme, the maximum cumulative LOD score was 6.53 at recombination fraction (straight theta) 0 with D22S689. The LOD score in the larger family was 5.34 at straight theta=0 with the same marker. The two families share an identical linked haplotype for >/=10 cM, including the candidate interval, indicating a recent founder effect. A severe phenotype in one of the probands may be caused by homozygosity for the causative mutation, as suggested by extensive homozygosity for the linked haplotype and a bilineal family history of epilepsy. An Australian family with a similar phenotype was not found to link to chromosome 22, indicating genetic heterogeneity of FPEVF.

Australia↗